Pathophysiology of moyamoya disease

In this article, we introduce cutting-edge knowledge pertaining to the pathophysiology of moyamoya disease from the viewpoint of angioarchitecture and genetic analysis. A complementary relationship among the anterior circulation(AC), the posterior circulation(PC)and the external carotid artery(ECA)system is involved in the pathophysiology of moyamoya disease. Suzuki’s grading is representative of the interaction between the AC and ECA, and it has traditionally played a leading role in evaluating disease progression. The interaction between the AC and PC is related to hemodynamic ischemia. There is a difference between pediatric and adult moyamoya patients in the interaction between the AC and PC. The analysis of the RNF213 gene is noteworthy as a new approach to understanding the pathophysiology of moyamoya disease. The prognosis and responsiveness to revascularization surgery can be predicted on the basis of genetic analysis. Although gene therapy for moyamoya disease is only now just in the basic experimental studies stage, it can be expected to emerge as an assisting modality for indirect revascularization surgery.